Progress in the clinical application of constraint-induced therapy following stroke since 2014.

Stroke is a group of cerebrovascular diseases with high prevalence and mortality rate. Stroke can induce many impairments, including motor and cognitive dysfunction, aphasia/dysarthria, dysphagia, and mood disorders, which may reduce the quality of life among the patients. Constraint-induced therapy has been proven to be an effective treatment method for stroke rehabilitation. It has been widely used in the recovery of limb motor dysfunction, aphasia, and other impairment like unilateral neglect after stroke. In recent years, constraint-induced therapy can also combine with telehealth and home rehabilitation. In addition, constraint-induced therapy produces significant neuroplastic changes in the central nervous system. Functional magnetic resonance imaging, diffusion tensor imaging, and other imaging/electrophysiology methods have been used to clarify the mechanism and neuroplasticity. However, constraint-induced therapy has some limitations. It can only be used under certain conditions, and the treatment time and effectiveness are controversial. Further research is needed to clarify the mechanism and effectiveness of CI therapy.

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

RATIONALE: The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Rieske Fe/S protein into precursors of Complex III (CIII) during the assembly of the respiratory chain. We report the first case of a compound heterozygous mutation in the BCS1L gene in China. PATIENT CONCERNS: A 7-month-old girl presented with a 3-month history of psychomotor developmental retardation and a 1-month history of epilepsy combined with parallel psychomotor developmental deterioration. The clinical manifestations in the patient included psychomotor developmental retardation, infantile spasms, pili torti, tubulopathy, hepatic pathologies and lactic acidosis. DIAGNOSIS: Combined with her clinical presentation, the patient was diagnosed with CIII deficiency and Björnstad syndrome caused by a novel mutation in the BCS1L gene after molecular biological examination. Whole exome sequencing revealed a compound heterozygous mutation with a missense mutation (c.548G > A/p. R183H) inherited from her mother and an insertion mutation (c.1061_1062insCTA/p. G354delinsGY) inherited from her father. INTERVENTIONS: Before admission, the patient had received oral topiramate for 1 month. After admission, additional intravenous arginine hydrochloride was administered for five days in the acute metabolic disorder phase, and persistent cocktail therapy was introduced, including coenzyme Q10 (20 mg/d), carnitine (1 g/d) and vitamins (vitamin B1, vitamin B2, vitamin B6, and vitamin C). OUTCOMES: The spasm seizures were decreased by 50% after 2 weeks of treatment. The blood ammonia, myocardial enzyme and urine glucose levels declined to normal levels. At a 1-month follow-up, the patient improved clinically with a decrease in spasm seizures of 75%, stronger sucking and more voluntary activities. However, she still had mild lactic acidosis and mild hepatic damage. LESSONS: We reported the first patient with CIII deficiency and Björnstad syndrome in China and identified 1 novel mutation (C.1061_1062insCTA and P. G354delinsGY) in the BCS1L gene. This finding expands the BCS1L gene mutation profile and will be beneficial for genetic diagnosis.

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.

RATIONALE: Asparagine synthetase deficiency (ASNSD) refers to a congenital metabolic abnormality caused by mutation in the asparagine synthetase (ASNS) gene encoded by chromosome 7q21. Herein, we report the first case of ASNSD in China, in which novel ASNS mutations were identified. PATIENT CONCERNS: A 6-month-old boy presented with a 4-month history of microcephaly and psychomotor developmental retardation and a 2-month history of epilepsy. Four months after birth, magnetic resonance imaging demonstrated a giant cyst in the right lateral ventricle, and a ventriculoperitoneal shunt was placed. Video electroencephalography showed a hypsarrhythmia pattern with a string of tonic-clonic and myoclonic seizures. On admission, physical examination showed microcephaly. Neurologic examination showed a decreased tension in the trunk muscles and an increased tension in the extremity muscles; tendon hyperreflexia was noted, and bilateral pathologic reflexes were positive. DIAGNOSIS: A diagnosed of congenital microcephaly was made. Whole-exome sequencing revealed a heterozygous deletion mutation c.666_667delCT (p.L2221Lfs*5) in exon 6 of the ASNS gene and a heterozygous missense mutation c.1424C>T (p.T457I) in exon 13 of the ASNS gene. INTERVENTIONS: After admission, intravenous adrenocorticotropic hormone and oral topiramate was administrated for 4 weeks, while the seizures persisted. Then, levetiracetam and clonazepam were added. OUTCOMES: After the follow-up period of 18 months, video electroencephalography showed that complex episodes disappeared with changes in multiple focal spike and sharp waves; 1 focal attack arising from the left occipital region and 2 focal attacks arising from the right middle temporal and the right occipital region were recorded. LESSONS: This is the first case of ASNSD in China. We identified 2 novel mutations (c.666_667delCT and c.1424C>T) in the ASNS gene, which expands the ASNS gene mutation profile and will be beneficial for genetic diagnosis.

Efficacy of functional magnetic stimulation in improving upper extremity function after stroke: a randomized, single-blind, controlled study.

OBJECTIVE: To clarify the efficacy of functional magnetic stimulation (FMS) in improving hemiplegic upper extremity function in patients with sub-acute stroke. METHODS: In this randomized controlled trial, 40 sub-acute stroke patients with hemiplegia were recruited from inpatient wards in the Department of Rehabilitation and randomly assigned to two groups. In the FMS group, magnetic stimulation was applied to extensor muscle groups of the affected upper extremity. In the low-frequency repetitive transcranial magnetic stimulation (LF-rTMS) group, stimulation was applied to the contralesional primary motor cortex. All patients received occupational therapy. Hand and upper extremity motor function was evaluated using the Fugl-Meyer Assessment for upper extremity (FMA-UE), and the Barthel Index (BI) evaluated daily living abilities. RESULTS: The FMA-UE and BI scores were significantly increased in both groups following stimulation. Furthermore, a significant between-group difference was observed in both FMA-UE and BI scores after 2 weeks of therapy. In the FMS group, 6 of 19 patients regained wrist and finger extension abilities, but only 2 patients regained equivalent motor skills in the LF-rTMS group. CONCLUSIONS: FMS improves paretic upper extremity function and leads to better recovery of motor activity than LF-rTMS. FMS may be a novel modality to improve motor function.

Anatomical distribution of lower-extremity deep venous thrombosis in patients with acute stroke.

OBJECTIVE: Post-stroke paralysis is a common contributor to deep vein thrombosis (DVT) of the lower extremities, but little is known about its epidemiology and anatomy. This prospective study aimed to investigate the clinical incidence and anatomical distribution of lower-extremity DVT in acute stroke. PATIENTS AND METHODS: A total of 679 patients diagnosed with acute stroke (ischemic stroke, n = 507; hemorrhagic stroke, n = 172) were enrolled. Lower-extremity DVT was evaluated using vascular ultrasonography, and classified into three subtypes: central type, peripheral type and mixed type. Then, the incidence and anatomical distribution of DVT were analyzed. RESULTS: For patients with ischemic stroke, a total of 107 patients (21.1%) were affected by DVT, and 119 extremities were found with DVT, which included 114 extremities with peripheral-type DVT and five extremities with mixed-type DVT. For patients with hemorrhagic stroke, a total of 49 patients (28.5%) were affected by DVT, and 55 extremities were found with DVT, which included 51 extremities with peripheral-type DVT and four extremities with mixed-type DVT. The incidence of DVT was significantly higher in patients with hemorrhagic stroke than in patients with ischemic stroke (P < 0.05). Intermuscular veins were the most commonly affected (96.6%), followed by peroneal veins (15.5%), posterior tibial veins (9.2%), popliteal veins (4.0%), and femoral veins (4.0%). There was no significant difference in the anatomical distribution of DVT between ischemic and hemorrhagic stroke (P > 0.05). CONCLUSION: DVT is a common complication of acute stroke, and hemorrhagic stroke is associated with a higher incidence of DVT. The anatomical distribution of DVT revealed no heterogeneity between ischemic and hemorrhagic stroke, and isolated DVT in intermuscular veins were the most common.

Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report.

RATIONALE: Tuberous sclerosis complex (TSC) is a relatively rare, autosomal dominant, and progressive neurocutaneous disorder involving multiple organs. Heterozygous mutations in the TSC1 gene located on chromosome 9 (9q34.13) or the TSC2 gene located on chromosome 16 (16p13.3) have been shown to be responsible for this disorder. The most common clinical manifestations are abnormalities of the skin, brain, kidney, heart, and lungs. Although all seizure types have been observed in TSC patients, the present case is the first in the literature to present with convulsive status epilepticus followed by hypoxic cerebropathy. PATIENT CONCERNS: A 33-month-old girl presented with fever and seizure followed by unconsciousness for 6 hours. Physical examination showed 4 hypopigmented macules with diameters exceeding 5 mm. Initial magnetic resonance imaging of the brain revealed diffuse edema in the bilateral cerebral cortex, cortical tubers, and subependymal nodules. Video electroencephalography showed no epileptiform activity, but diffuse slow waves intermixed with small fast waves were seen for all leads. Computed tomography brain scanning revealed bilateral cortex edema and calcified subependymal nodules. DIAGNOSIS: Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. INTERVENTIONS: The patient received anti-infection therapy, mannitol dehydration, hyperbaric oxygen treatment, and topiramate. OUTCOMES: One month later, the patient was in a decorticate state, presenting with unconsciousness and bilateral arm flexion and leg extension. At 6 weeks, repeated electroencephalography was normal. LESSONS: In addition to the present case report, rare studies have reported cases of TSC presenting as convulsive status epileticus followed by hypoxic cerebropathy, which may be strongly associated with a poor prognosis. Patients with the characteristic skin lesions and epilepsy should be carefully evaluated for the possible diagnosis of TSC.

Revascularization of vertebrobasilar artery occlusion at the chronic stage.

We describe a patient who underwent intracranial angioplasty and Solitaire stent placement for recanalization of a vertebrobasilar artery occlusion 2 months after symptom onset. Computed tomography angiography and digital subtraction angiography showed that both vertebral arteries and the proximal basilar artery were occluded. Balloon angioplasty was performed on a segment of the occluded left vertebral artery and basilar artery, followed by successful detachment of one Solitaire stent. Repeat angiography showed near normal patency of the left vertebrobasilar artery. The patient`s symptoms improved significantly, and postoperative transcranial Doppler sonography 3 months later showed no evidence of in-stent restenosis.

Endovascular treatment for ischemic stroke induced by vertebrobasilar junction artery dissection: 2 case reports.

We reported 2 cases of vertebrobasilar junction artery dissection treated by different methods. Intra-artery thrombolysis was used to treat 1 patient, who died 53 hours after the procedure. The other case was treated by stenting for unaffected vertebral artery associated with a coil occlusion of affected vertebral artery, and the prognosis was good. These cases suggest that occlusion of proximal side of the vertebral artery affected by dissection and stenting for the junction between the other side of vertebral artery and the basilar artery may be a feasible method for vertebrobasilar junction artery dissection with or without thrombolysis.